Associated Papers
SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.
Chatelain FC et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2026
Cardiomyopathies, heart rhythm and conduction disorders as phenotypic manifestation of genetic variants in large cohort of cardiac patients: results of whole-genome study.
Rimskaya EM et al.
Gene, 2026
High-throughput screens identify genotype-specific therapeutics for channelopathies.
Egly CL et al.
Jci Insight, 2025
The role of iPSC research for insight into inherited arrhythmia conditions.
Josvai MB et al.
Heart Rhythm, 2025
Alleviating the Effects of Short QT Syndrome Type 3 by Allele-Specific Suppression of the KCNJ2 Mutant Allele.
Wilders R
International Journal of Molecular Sciences, 2024
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
Thomson KL et al.
Hgg Advances, 2024
Translation reinitiation in c.453delC frameshift mutation of KCNH2 producing functional hERG K+ channels with mild dominant negative effect in the heterozygote patient-derived iPSC cardiomyocytes.
Park NK et al.
Human Molecular Genetics, 2024
Precision therapy in congenital long QT syndrome.
Neves R et al.
Trends in Cardiovascular Medicine, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Differential Effects of Remdesivir and Lumacaftor on Homomeric and Heteromeric hERG Channels.
Campagna N et al.
Molecular Pharmacology, 2023
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Fazelifar AF et al.
Journal of Arrhythmia, 2023
SGK1 inhibition attenuated the action potential duration in patient- and genotype-specific re-engineered heart cells with congenital long QT syndrome.
Kim M et al.
Heart Rhythm O2, 2023
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Copier JS et al.
Human Molecular Genetics, 2023
The Advantages, Challenges, and Future of Human-Induced Pluripotent Stem Cell Lines in Type 2 Long QT Syndrome.
Cai D et al.
Journal of Cardiovascular Translational Research, 2023
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
Suppression and Replacement Gene Therapy for KCNH2-Mediated Arrhythmias.
Bains S et al.
Circulation. Genomic and Precision Medicine, 2022
STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells.
Blanch-Asensio A et al.
Cell Reports Methods, 2022
A High-Throughput Screening Assay to Identify Drugs that Can Treat Long QT Syndrome Caused by Trafficking-Deficient KV11.1 (hERG) Variants.
Egly CL et al.
Molecular Pharmacology, 2022
Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Song Y et al.
Frontiers in Cardiovascular Medicine, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Zhang Y et al.
Frontiers in Pharmacology, 2022
Pharmacological corrections of the mutant hERG channels by posaconazole.
Luo C et al.
Clinical and Experimental Pharmacology & Physiology, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Promise and Potential Peril With Lumacaftor for the Trafficking Defective Type 2 Long-QT Syndrome-Causative Variants, p.G604S, p.N633S, and p.R685P, Using Patient-Specific Re-Engineered Cardiomyocytes.
O'Hare BJ et al.
Circulation. Genomic and Precision Medicine, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
G604S-HERG mutation in LQT2 leads to autophagy via the UPR-related pathway.
Zhao Y et al.
Journal of Biosciences, 2020
Mexiletine Shortens the QT Interval in Patients With Potassium Channel-Mediated Type 2 Long QT Syndrome.
Bos JM et al.
Circulation. Arrhythmia and Electrophysiology, 2019
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.
Son MJ et al.
Journal of Korean Medical Science, 2018
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.
Ioakeimidis NS et al.
Journal of Biological Research (thessalonike, Greece), 2017
NS1643 enhances ionic currents in a G604S-WT hERG co-expression system associated with long QT syndrome 2.
Huo J et al.
Clinical and Experimental Pharmacology & Physiology, 2017
A multiscale computational modelling approach predicts mechanisms of female sex risk in the setting of arousal-induced arrhythmias.
Yang PC et al.
The Journal of Physiology, 2017
Relevance of molecular testing in patients with a family history of sudden death.
Kauferstein S et al.
Forensic Science International, 2017
Pharmacological rescue of hERG currents carried out by G604S and wide type hERG co-expression.
Huo J et al.
Clinical and Experimental Pharmacology & Physiology, 2016
Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy.
Li G et al.
Molecular Medicine Reports, 2016
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Prevalence and spectrum of electroencephalogram-identified epileptiform activity among patients with long QT syndrome.
Anderson JH et al.
Heart Rhythm, 2014
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.
Crotti L et al.
Journal of the American College of Cardiology, 2012
Long QT syndrome with nocturnal cardiac events caused by a KCNH2 missense mutation (G604S).
Sato A et al.
Internal Medicine (tokyo, Japan), 2012
Functional characterization of the LQT2-causing mutation R582C and the associated voltage-dependent fluorescence signal.
Fougere RR et al.
Heart Rhythm, 2011